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FLASH GENE
Symbol MTRR contributors: mct - updated : 15-05-2014
HGNC name 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
HGNC id 7473
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • FMN, FAD, NADPH binding sites
  • a FAD-binding domain
  • a flavodoxin-like domain
    • HOMOLOGY
    interspecies homolog to C.elegans methionine synthase reductase
    intraspecies homolog to cytochrome p450 reductase
    Homologene
    FAMILY FNR family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus
    basic FUNCTION
  • 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • activating cobalamin-dependent methionine synthase
  • regenerating a functional methionine synthase via reductive methylation
  • required for electron transfer from NADP to cytochrome p450 in microsomes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    sulfur
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    FAD and FMN
    protein serves as a special chaperone for MTR
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MTRRD
    Susceptibility
  • risk factor for neural tube defect, NTD, (combined with low cobalamin)
  • to coronary artery disease (CAD)
  • to migraine with aura
    • Variant & Polymorphism other
  • 66A>G exert a protective effect on neural tube defect
  • MTRR variants may protect against migraine with aura in an older population
  • MTRR A66G polymorphism, but not MTR A2756G, is significantly associated with maternal risk for NTDs in Caucasians
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS